Personalised medicine based on the analysis of a patient's genome is showing great promise in increasing the efficacy of treatments and enabling new treatments previously not possible. Currently, a typical process involves the submission of a DNA containing sample from a patient to a genomic laboratory, where the patient's genome is fully or partially sequenced to answer a specific question, facilitating a physician making diagnostic or treatment decisions. Such queries involve looking for certain features or markers in the genome, such as mutations and repeated sequences of DNA in certain genes, abnormal chromosome numbers, the presence or absence of certain genes, gene duplication, among others.
In the current state of the art, genome sequencing needs to be performed every time a genetic test is requested due to privacy and anonymity concerns. Additionally, the formulation of a genome query result requires significant specialist knowledge that many physicians do not possess. Even when physicians have relevant specialist knowledge, elaboration of answers to a genome query requires specialist geneticists, typically a scarce resource. The need for sequencing the whole genome or part of it every time a condition/disease has to be tested, and the level of specialisation required both to perform the analysis and to interpret the results mean that obtaining answers to genomic queries is a time-consuming and costly process which limits access to a personalised medicine.